Variant #0000002927 (NC_000016.10:g.30131C>T, FANCA(NM_000135.4):c.1235C>T)

Individual ID 00000714
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.30131C>T
Published as -
Reference Adiratna Mat Ripen et al.(2020)
DB-ID FANCA_000002 See all 2 reported entries
dbSNP ID rs11646374
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

Clinical classification     
FANCA NM_000135.4 ?/. 14 c.1235C>T - r.(?) p.(Ala412Val) Benign



Screenings


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Genes screened     

Variants found     

Owner     
0000000806 DNA PCR;SEQ FANCA 6 Nur Aisyah Athirah